×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA57904136
Gene:
Linked Data
dbSNP Id:
rs36030469
gnomAD v2:
2-146125371-CA-C
gnomAD v3:
2-145367803-CA-C
gnomAD v4:
2-145367803-CA-C
MyVariant Identifiers:
chr2:g.146125374del (hg19)
chr2:g.146125372del (hg19)
chr2:g.145367806del (hg38)
chr2:g.145367804del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145367812del , CM000664.2:g.145367812del
GRCh38
NC_000002.11:g.146125380del , CM000664.1:g.146125380del
GRCh37
NC_000002.10:g.145841850del
NCBI36
Search 100 bp 5'
Search 100 bp 3'